Disease

Tuberous sclerosis 21, 2

Gene

TSC2

Inheritance AD
Current Treatments Vigabatrin for seizures, mTOR inhibitor for rhabdomyoma, Epidiolex (cannabidiol) for seizures
Evidence for Treatment guideline3, 4
Non-Molecular Testing Availability no
ClinGen https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC026
Disease Frequency (per 100,000) 10.2055
Genes Included in Disease Frequency TSC1 and TSC2
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Tuberous+Sclerosis&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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